Recombinant Human PEX19, His-tagged

Description :	This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants.
Conjugation :	HIS
Source :	E. coli
Tissue specificity :	Ubiquitously expressed. Isoform 1 is strongly predominant in all tissues except in utero where isoform 2 is the main form.
Form :	Liquid
Purity :	>95% by SDS-PAGE
Storage buffer :	Preservative: 0.002% Sodium AzideConstituents: 0.1% Triton X-100, 10mM Tris, pH 8.0
Storage :	Aliquot and store at -80°C. Avoid repeated freeze / thaw cycles.
Sequence Similarities :	Belongs to the peroxin-19 family.
Full Length :	Full L.

Gene Name	PEX19 peroxisomal biogenesis factor 19 [ Homo sapiens ]
Official Symbol	PEX19
Synonyms	PEX19; peroxisomal biogenesis factor 19; peroxisomal farnesylated protein , PXF; D1S2223E; HK33; housekeeping gene; 33kD; PMP1; PMPI; PXMP1;
Gene ID	5824
mRNA Refseq	NM_001193644
Protein Refseq	NP_001180573
Uniprot ID	P40855
Chromosome Location	1q22
Pathway	ABC-family proteins mediated transport, organism-specific biosystem; ABCA transporters in lipid homeostasis, organism-specific biosystem; Peroxisome, organism-specific biosystem; Peroxisome, conserved biosystem; Transmembrane transport of small molecules, organism-specific biosystem;
Function	protein N-terminus binding; protein binding;